ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
CCND2 | - | - |
GRCh38 GRCh37 |
93 | 182 | |
CRACR2A | - | - |
GRCh38 GRCh37 |
79 | 148 | |
DYRK4 | - | - |
GRCh38 GRCh37 |
25 | 86 | |
FERRY3 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
FGF23 | - | - |
GRCh38 GRCh37 |
196 | 259 | |
FGF6 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
GALNT8 | - | - |
GRCh38 GRCh37 |
42 | 101 | |
KCNA6 | - | - |
GRCh38 GRCh37 |
18 | 79 | |
NDUFA9 | - | - |
GRCh38 GRCh37 |
203 | 262 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 26, 2015 | RCV000511740.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024